Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD families from a south Indian population. Thirty-six d...

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Sparad:
Bibliografiska uppgifter
I publikationen:PLoS One
Huvudupphovsmän: Singh, Nivedita, Kallollimath, Pradeep, Shah, Mohd Hussain, Kapoor, Saketh, Bhat, Vishwanath Kumble, Viswanathan, Lakshminarayanapuram Gopal, Nagappa, Madhu, Bindu, Parayil S., Taly, Arun B., Sinha, Sanjib, Kumar, Arun
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2019
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6502322/
https://ncbi.nlm.nih.gov/pubmed/31059521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0215779
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